title: De novo insertion of an intron into the mammalian sex determining gene, SRY.
abstract: Two theories have been proposed to explain the evolution of introns within eukaryotic genes. The introns early theory, or "exon theory of genes," proposes that introns are ancient and that recombination within introns provided new exon structure, and thus new genes. The introns late theory, or "insertional theory of introns," proposes that ancient genes existed as uninterrupted exons and that introns have been introduced during the course of evolution. There is still controversy as to how intron-exon structure evolved and whether the majority of introns are ancient or novel. Although there is extensive evidence in support of the introns early theory, phylogenetic comparisons of several genes indicate recent gain and loss of introns within these genes. However, no example has been shown of a protein coding gene, intronless in its ancestral form, which has acquired an intron in a derived form. The mammalian sex determining gene, SRY, is intronless in all mammals studied to date, as is the gene from which it recently evolved. However, we report here comparisons of genomic and cDNA sequences that now provide evidence of a de novo insertion of an intron into the SRY gene of dasyurid marsupials. This recently (approximately 45 million years ago) inserted sequence is not homologous with known transposable elements. Our data demonstrate that introns may be inserted as spliced units within a developmentally crucial gene without disrupting its function.
authors.affiliation: School of Genetics and Human Variation, La Trobe University, Bundoora, VIC 3083, Australia. racho@princeton.edu
authors.forename: R J
authors.initials: RJ
authors.lastname: O'Neill
authors.forename: F E
authors.initials: FE
authors.lastname: Brennan
authors.forename: M L
authors.initials: ML
authors.lastname: Delbridge
authors.forename: R H
authors.initials: RH
authors.lastname: Crozier
authors.forename: J A
authors.initials: JA
authors.lastname: Graves
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D005075:Biological Evolution; D004268:DNA-Binding Proteins / Q000235:genetics*; D007438:Introns; D008394:Marsupialia / Q000235:genetics*; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D010802:Phylogeny; D016415:Sequence Alignment; D012689:Sequence Homology, Nucleic Acid; D012733:Sex Differentiation; D051876:Sex-Determining Region Y Protein; D013045:Species Specificity; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors